Segmental odontomaxillary dysplasia (SOD) is a rare developmental disorder, with fewer than 70 cases reported in the literature. It typically presents in childhood as unilateral maxillary enlargement associated with dental anomalies and, in approximately half of cases, ipsilateral cutaneous features. Owing to its rarity and overlap with other maxillary pathologies, diagnosis remains challenging. This article aimed to report a new case of this rare disorder and highlight key management considerations through a review of the literature.

A 14-year-old boy was referred during orthodontic treatment for surgical exposure of an impacted premolar and gingivectomy in the left maxilla. Clinical examination revealed facial asymmetry, unilateral maxillary expansion, hypodontia, dental positional anomalies (diastema and impaction), and ipsilateral infra-malar hypertrichosis. Radiographic assessment demonstrated trabecular bone thickening, hypopneumatization of the left maxillary sinus, agenesis of a premolar, and impaction of the second premolar. These clinical and radiological findings were highly suggestive of SOD. The diagnosis was supported by bone and gingival biopsy performed during surgery.

This case illustrates the diagnostic and therapeutic challenges of SOD. The literature review highlights the importance of distinguishing SOD from other conditions such as fibrous dysplasia or regional odontodysplasia. Management is multidisciplinary and must be individualized according to growth and clinical presentation, combining orthodontic, surgical, and prosthetic approaches. Early recognition and coordinated care are essential to optimize functional and aesthetic outcomes in patients with SOD.